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Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean β‐thalassemia mutations

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dc.contributor.author Naja, R.P.
dc.contributor.author Kaspar, H.
dc.contributor.author Shbaklo, H.
dc.contributor.author Chakar, N.
dc.contributor.author Makhoul, N.J.
dc.contributor.author Zalloua, P.A.
dc.date.accessioned 2019-07-22T07:07:59Z
dc.date.available 2019-07-22T07:07:59Z
dc.date.copyright 2004 en_US
dc.identifier.issn 1096-8652 en_US
dc.identifier.uri http://hdl.handle.net/10725/11113
dc.description.abstract β‐Thalassemia is the most common genetic disorder in the Lebanese population. Of the 200 different mutations in the β‐globin gene that leads to thalassemia, the IVSI‐110 (29.87%), IVSI‐6 (20.74%), IVSI‐1 (14.07%), IVSII‐1 (9.13%), Cd29 (9.13%), and Cd30 (3.95%) mutations are the most frequent among Lebanese thalassemic patients. These mutations are also present at high frequencies in the East Mediterranean region. Due to this high prevalence of certain β‐thalassemia mutations, a rapid technique for the prenatal diagnosis of these mutations was implemented. The technique used is based on Real‐Time PCR quantification and melting curve analysis of the amplified fragment using the LightCycler. The DNA samples used for amplification were obtained from CVS or amniotic fluid. Six mutations were easily and efficiently detected using only 3 sets of probes. With this method, mutant genotypes can be easily distinguished from normal alleles. In prenatal diagnosis, the accuracy and the speed of testing are paramount. The method of prenatal β‐thalassemia mutations detection described here is efficient and fast, with the entire procedure including DNA preparation taking less than half a workday. It is safe, does not involve radioactivity, and is accurate showing 100% concordance with conventional DNA sequencing methods en_US
dc.language.iso en en_US
dc.title Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean β‐thalassemia mutations en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 20030001 en_US
dc.author.department N/A en_US
dc.description.embargo N/A en_US
dc.relation.journal Amercian Journal of Hematology en_US
dc.journal.volume 75 en_US
dc.journal.issue 4 en_US
dc.article.pages 220-224 en_US
dc.keywords Thalassemia en_US
dc.keywords LightCycler en_US
dc.keywords Diagnosis en_US
dc.keywords Prenatal en_US
dc.keywords Melting curves en_US
dc.identifier.doi https://doi.org/10.1002/ajh.20013 en_US
dc.identifier.ctation Naja, R. P., Kaspar, H., Shbaklo, H., Chakar, N., Makhoul, N. J., & Zalloua, P. A. (2004). Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean β‐thalassemia mutations. American journal of hematology, 75(4), 220-224. en_US
dc.author.email pierre.zalloua@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.20013 en_US
dc.orcid.id https://orcid.org/0000-0002-8494-5081 en_US
dc.author.affiliation Lebanese American University en_US


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